A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541710



Internal ID15162011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175461719..175769867hg38UCSC Ensembl
Innerchr1:175430855..175739003hg19UCSC Ensembl
Innerchr1:173697478..174005626hg18UCSC Ensembl
Innerchr1:172162512..172470660hg17UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38308149
hg19308149
hg18308149
hg17308149
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466072
Supporting Variants
SamplesHGDP00885
Known GenesTNR
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv541710
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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